Lens Opacity in ABCA4-Associated Stargardt Disease Patients in the ProgStar Study

Area of Science:

• Ophthalmology
• Genetics
• Retinal Degeneration

Background:

• Stargardt disease (STGD1) is a common inherited macular dystrophy caused by mutations in the ABCA4 gene.
• Lens opacity (LO) is a common complication in ocular diseases, but its prevalence and risk factors in STGD1 are not well-established.

Purpose of the Study:

• To estimate the prevalence and incidence of lens opacity (LO) in patients with ABCA4-associated Stargardt disease (STGD1).
• To identify risk factors associated with the development of LO in STGD1 patients.

Main Methods:

• Secondary analysis of the multicenter ProgStar study, including patients with molecularly confirmed STGD1 aged 6 years and older.
• Lens opacity was graded using the Age-Related Eye Disease Study (AREDS) protocol over a 2-year follow-up period.
• Logistic regression with generalized estimating equations was used to determine risk factors for LO.

Main Results:

• Baseline LO prevalence was 14.3% in study eyes. Older age (adjOR=4.6) and later symptom onset (adjOR=0.7) were significantly associated with LO prevalence.
• The 2-year incidence of LO was 5.6%. Older age remained a significant risk factor for LO incidence (adjOR=4.1).
• Nuclear cataract was the most prevalent and incident type of LO, while posterior-subcapsular cataract was rare.

Conclusions:

• Lens opacity prevalence in STGD1 patients is higher than in age-matched general populations.
• Age and age of symptom onset are significant risk factors for LO, indicating accelerated aging and biological factors in STGD1.
• Clinical trials for STGD1 should monitor anterior segment safety and consider patient eligibility regarding upcoming cataract surgery.